Cerebro-oculo-facio-skeletal syndrome

Cerebro-oculo-facio-skeletal (COFS) syndrome—also known as COFS syndrome and Pena-Shokeir syndrome, Type II—is an inherited, degenerative disorder that involves the brain, eyes, and spinal cord. COFS syndrome can be detected in fetuses through ultrasound technology or it can be diagnosed at birth.

In most cases, the cause of COFS syndrome is unknown, but some cases have been identified by mutated genes which are thought to be the cause. It is characterized by skull, facial, and skeletal abnormalities. Symptoms may include:

• Impaired cognitive development, which can be severe
• Abnormally small head (microcephaly)
• Reduced muscle tone (hypotonia)

• Impaired reflexes
• Impaired vision
• Involuntary eye movements

A child with COFS may also have an abnormally small jaw (micrognathia), clenched fists, and wide-set nipples. Respiratory infections may be frequent. There is no cure for COFS syndrome, and most children do not live beyond five years. Treatment is supportive and symptomatic as genetic counseling is available.

NOTE: COFS syndrome is not the same as Cohen's syndrome (cerebral obesity ocular skeletal syndrome).

How can I or my loved one help improve care for people with cerebro-oculo-facio-skeletal (COFS) syndrome?

Consider participating in a clinical trial so clinicians and scientists can learn more about COFS and degenerative disorders. Clinical research uses human volunteers to help researchers learn more about a disorder and perhaps find better ways to safely detect, treat, or prevent disease.

All types of volunteers are needed—those who are healthy or may have an illness or disease—of all different ages, sexes, races, and ethnicities to ensure that study results apply to as many people as possible, and that treatments will be safe and effective for everyone who will use them.

For information about participating in clinical research visit NIH Clinical Research Trials and You. Learn about clinical trials currently looking for people with COFS at Clinicaltrials.gov, a database of current and past clinical studies and research results.

Where can I find more information about cerebro-oculo-facio-skeletal (COFS) syndrome?

Information may be available from the following resources:

National Organization for Rare Disorders (NORD)

PubMed

Content source: https://www.ninds.nih.gov/health-information/disorders/cerebro-oculo-fascio-skeletal-cofs-syndrome Accessed July 12, 2023.

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